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February 1975

Picture of the Month

Author Affiliations

From the Center for Genetic Counseling and Birth Defect Evaluation, Boston Floating Hospital for Infants and Children.

Am J Dis Child. 1975;129(2):227-228. doi:10.1001/archpedi.1975.02120390059012

Denouement and Discussion 

Acrocephalosyndactyly Type Saethre-Chotzen (Saethre-Chotzen Syndrome) 

Manifestations  Major manifestations include craniosynostosis, beaked nose, ptosis of the eyes, and hand abnormalities. Microcephaly may be associated with the craniosynostosis. The skull is acrocephalic with a flattened forehead, supraglabellar depression, and platybasia. The face is usually asymmetrical and the nose is beaked or parrot shaped with deviation of the nasal septum and a depressed nasal bridge. A low frontal hairline is frequently present. The ears may be low-set and malformed with occasional hearing impairment. Eye findings other than ptosis include strabismus, shallow orbits, antimongoloid slant, abnormal tear ducts, optic atrophy, refractive errors, and ocular hypertelorism. The palate is usually high-arched and occasionally a cleft may be present. There are various dental anomalies including abnormal

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